rs880770

Homo sapiens
G>A
PPARGC1B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0398 (11898/29878,GnomAD)
G==0394 (11472/29118,TOPMED)
G==0344 (1722/5008,1000G)
G==0364 (1401/3854,ALSPAC)
G==0355 (1318/3708,TWINSUK)
chr5:149775272 (GRCh38.p7) (5q32)
AD
GWASdb2
2   publication(s)
See rs on genome
209 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.149775272G>A
GRCh37.p13 chr 5NC_000005.9:g.149154835G>A
PPARGC1B RefSeqGeneNG_016747.1:g.50021G>A

Gene: PPARGC1B, PPARG coactivator 1 beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PPARGC1B transcript variant 2NM_001172698.1:c.N/AIntron Variant
PPARGC1B transcript variant 3NM_001172699.1:c.N/AIntron Variant
PPARGC1B transcript variant 1NM_133263.3:c.N/AIntron Variant
PPARGC1B transcript variant X1XM_011537553.2:c.N/AIntron Variant
PPARGC1B transcript variant X3XM_011537555.2:c.N/AIntron Variant
PPARGC1B transcript variant X6XM_011537557.1:c.N/AIntron Variant
PPARGC1B transcript variant X4XM_005268372.4:c.N/AGenic Upstream Transcript Variant
PPARGC1B transcript variant X2XM_011537554.2:c.N/AGenic Upstream Transcript Variant
PPARGC1B transcript variant X5XM_011537556.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.456A=0.544
1000GenomesAmericanSub694G=0.300A=0.700
1000GenomesEast AsianSub1008G=0.207A=0.793
1000GenomesEuropeSub1006G=0.370A=0.630
1000GenomesGlobalStudy-wide5008G=0.344A=0.656
1000GenomesSouth AsianSub978G=0.340A=0.660
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.364A=0.636
The Genome Aggregation DatabaseAfricanSub8684G=0.459A=0.541
The Genome Aggregation DatabaseAmericanSub836G=0.320A=0.680
The Genome Aggregation DatabaseEast AsianSub1616G=0.197A=0.803
The Genome Aggregation DatabaseEuropeSub18440G=0.390A=0.609
The Genome Aggregation DatabaseGlobalStudy-wide29878G=0.398A=0.601
The Genome Aggregation DatabaseOtherSub302G=0.420A=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.394A=0.606
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.355A=0.645
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
22369142Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5.Nolan DKBMC Genet

P-Value

SNP ID p-value Traits Study
rs8807700.000739alcohol dependence21314694

eQTL of rs880770 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs880770 in Fetal Brain

Probe ID Position Gene beta p-value
cg15809858chr5:149111017PPARGC1B0.01515388687445721.1664e-10

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr5149114700149115042E067-39793
chr5149115074149115142E067-39693
chr5149115147149115308E067-39527
chr5149120030149120232E067-34603
chr5149139620149139891E067-14944
chr5149146623149147166E067-7669
chr5149147208149147317E067-7518
chr5149156168149156223E0671333
chr5149156328149156707E0671493
chr5149156881149156969E0672046
chr5149161292149161535E0676457
chr5149161626149162702E0676791
chr5149172835149172965E06718000
chr5149173160149173225E06718325
chr5149173653149173848E06718818
chr5149173864149174441E06719029
chr5149174504149174644E06719669
chr5149174724149174776E06719889
chr5149174996149175076E06720161
chr5149180992149181086E06726157
chr5149185223149186153E06730388
chr5149203424149204300E06748589
chr5149204384149204827E06749549
chr5149114700149115042E068-39793
chr5149139620149139891E068-14944
chr5149140199149140587E068-14248
chr5149146623149147166E068-7669
chr5149147208149147317E068-7518
chr5149151231149151402E068-3433
chr5149152647149152709E068-2126
chr5149152754149152812E068-2023
chr5149152906149153005E068-1830
chr5149153097149153184E068-1651
chr5149156168149156223E0681333
chr5149156328149156707E0681493
chr5149156881149156969E0682046
chr5149159262149159442E0684427
chr5149159498149159620E0684663
chr5149159736149159963E0684901
chr5149160075149160159E0685240
chr5149160213149160557E0685378
chr5149160794149161105E0685959
chr5149161292149161535E0686457
chr5149161626149162702E0686791
chr5149169329149169394E06814494
chr5149169541149169648E06814706
chr5149169688149169732E06814853
chr5149169950149170159E06815115
chr5149172835149172965E06818000
chr5149173160149173225E06818325
chr5149173653149173848E06818818
chr5149173864149174441E06819029
chr5149180992149181086E06826157
chr5149181264149181924E06826429
chr5149182141149182279E06827306
chr5149185223149186153E06830388
chr5149202392149202652E06847557
chr5149202765149202845E06847930
chr5149202898149202989E06848063
chr5149203020149203245E06848185
chr5149203424149204300E06848589
chr5149204384149204827E06849549
chr5149120030149120232E069-34603
chr5149120688149120956E069-33879
chr5149121564149121651E069-33184
chr5149161626149162702E0696791
chr5149173864149174441E06919029
chr5149174504149174644E06919669
chr5149174724149174776E06919889
chr5149174996149175076E06920161
chr5149185223149186153E06930388
chr5149202765149202845E06947930
chr5149202898149202989E06948063
chr5149203020149203245E06948185
chr5149203424149204300E06948589
chr5149204384149204827E06949549
chr5149201901149201951E07047066
chr5149202120149202288E07047285
chr5149202392149202652E07047557
chr5149203020149203245E07048185
chr5149156168149156223E0711333
chr5149161626149162702E0716791
chr5149172835149172965E07118000
chr5149173160149173225E07118325
chr5149173653149173848E07118818
chr5149173864149174441E07119029
chr5149174504149174644E07119669
chr5149179999149180052E07125164
chr5149180198149180291E07125363
chr5149180389149180559E07125554
chr5149185223149186153E07130388
chr5149202765149202845E07147930
chr5149202898149202989E07148063
chr5149203020149203245E07148185
chr5149203424149204300E07148589
chr5149120030149120232E072-34603
chr5149120688149120956E072-33879
chr5149121564149121651E072-33184
chr5149121990149122172E072-32663
chr5149125576149125693E072-29142
chr5149131848149131950E072-22885
chr5149159262149159442E0724427
chr5149159498149159620E0724663
chr5149159736149159963E0724901
chr5149172835149172965E07218000
chr5149173160149173225E07218325
chr5149173864149174441E07219029
chr5149174504149174644E07219669
chr5149174724149174776E07219889
chr5149174996149175076E07220161
chr5149175140149175247E07220305
chr5149175383149175470E07220548
chr5149175600149175964E07220765
chr5149176193149176548E07221358
chr5149176622149176835E07221787
chr5149178574149179205E07223739
chr5149180992149181086E07226157
chr5149185223149186153E07230388
chr5149203020149203245E07248185
chr5149203424149204300E07248589
chr5149119031149119087E073-35748
chr5149120030149120232E073-34603
chr5149120688149120956E073-33879
chr5149121564149121651E073-33184
chr5149139620149139891E073-14944
chr5149140199149140587E073-14248
chr5149160794149161105E0735959
chr5149161292149161535E0736457
chr5149161626149162702E0736791
chr5149171508149171790E07316673
chr5149173160149173225E07318325
chr5149173653149173848E07318818
chr5149173864149174441E07319029
chr5149174504149174644E07319669
chr5149174724149174776E07319889
chr5149174996149175076E07320161
chr5149175140149175247E07320305
chr5149175383149175470E07320548
chr5149175600149175964E07320765
chr5149176193149176548E07321358
chr5149176622149176835E07321787
chr5149178067149178387E07323232
chr5149178444149178534E07323609
chr5149178574149179205E07323739
chr5149180198149180291E07325363
chr5149180389149180559E07325554
chr5149180815149180884E07325980
chr5149180992149181086E07326157
chr5149181264149181924E07326429
chr5149182141149182279E07327306
chr5149183156149183228E07328321
chr5149183300149183894E07328465
chr5149184160149184335E07329325
chr5149184416149184776E07329581
chr5149185223149186153E07330388
chr5149202392149202652E07347557
chr5149202765149202845E07347930
chr5149202898149202989E07348063
chr5149203020149203245E07348185
chr5149203424149204300E07348589
chr5149174504149174644E07419669
chr5149174724149174776E07419889
chr5149174996149175076E07420161
chr5149185223149186153E07430388
chr5149203020149203245E07448185
chr5149203424149204300E07448589
chr5149120030149120232E081-34603
chr5149120688149120956E081-33879
chr5149156881149156969E0812046
chr5149157027149157344E0812192
chr5149157409149157541E0812574
chr5149157546149157617E0812711
chr5149157641149157862E0812806
chr5149171508149171790E08116673
chr5149172835149172965E08118000
chr5149173160149173225E08118325
chr5149173653149173848E08118818
chr5149173864149174441E08119029
chr5149174504149174644E08119669
chr5149174724149174776E08119889
chr5149174996149175076E08120161
chr5149175140149175247E08120305
chr5149175383149175470E08120548
chr5149175600149175964E08120765
chr5149176193149176548E08121358
chr5149176622149176835E08121787
chr5149179749149179799E08124914
chr5149179824149179885E08124989
chr5149179999149180052E08125164
chr5149180198149180291E08125363
chr5149180389149180559E08125554
chr5149180815149180884E08125980
chr5149180992149181086E08126157
chr5149181264149181924E08126429
chr5149182141149182279E08127306
chr5149203424149204300E08148589
chr5149204384149204827E08149549
chr5149157903149157955E0823068
chr5149173160149173225E08218325
chr5149173653149173848E08218818
chr5149173864149174441E08219029
chr5149174504149174644E08219669
chr5149174724149174776E08219889
chr5149174996149175076E08220161
chr5149175140149175247E08220305
chr5149176193149176548E08221358
chr5149179999149180052E08225164
chr5149180198149180291E08225363
chr5149180389149180559E08225554










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5149109450149112492E067-42343
chr5149109450149112492E068-42343
chr5149109450149112492E069-42343
chr5149109450149112492E070-42343
chr5149109450149112492E071-42343
chr5149109450149112492E072-42343
chr5149109450149112492E073-42343
chr5149109450149112492E074-42343